Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene

Review Physiology

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHIES: FROM GENETIC HETEROGENEITY TO PHENOTYPIC CONTINUUM

Renzo Guerrini et al.

Summary: Developmental and epileptic encephalopathies (DEEs) are a group of disorders characterized by early-onset severe epileptic seizures, EEG abnormalities, and developmental impairment. DEEs can be caused by genetic and nongenetic factors, with mutations in various genes playing a role. Research in animal models and clinical trials have helped uncover the pathophysiological mechanisms underlying DEEs and explore different treatment options.

PHYSIOLOGICAL REVIEWS (2023)

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Review Health Care Sciences & Services

State of the Art and Challenges in Epilepsy-A Narrative Review

Aida Mihaela Manole et al.

Summary: Epilepsy affects approximately 50 million people worldwide, and a single seizure does not necessarily indicate epilepsy. There are many other central nervous system disorders that can cause seizures, leading to a widespread and often underestimated impact. Correct diagnosis and treatment could potentially make 70% of epilepsy patients seizure-free, but their quality of life is also influenced by factors such as adverse reactions to antiepileptic drugs, access to education, mood, employment, and transportation.

JOURNAL OF PERSONALIZED MEDICINE (2023)

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Article Clinical Neurology

The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy

Robyn Whitney et al.

Summary: Objective ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy. Only a few cases have been reported, and the epilepsy phenotype is not fully elucidated.

EPILEPSIA OPEN (2023)

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Review Genetics & Heredity

To NMD or Not To NMD: Nonsense-Mediated mRNA Decay in Cancer and Other Genetic Diseases

Fran Supek et al.

Summary: The nonsense-mediated mRNA decay (NMD) pathway has been extensively studied to accurately predict the degradation of mRNA with premature termination codons (PTCs). NMD plays a crucial role in disease identification and treatment, as well as in cancer immunotherapy.

TRENDS IN GENETICS (2021)

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Review Genetics & Heredity

Phenotype of ST3GAL3 deficient patients: A case and review of the literature

Hossein Jafari Khamirani et al.

Summary: ST3GAL3 deficiency is a rare genetic disorder associated with symptoms such as epilepsy, intellectual disability, and behavioral disorders. This study found that the patient's presentation was similar to previously reported cases, but also exhibited new repetitive behaviors.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2021)

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Article Biotechnology & Applied Microbiology